GFPT1 (glutamine--fructose-6-phosphate transaminase 1)

Gene

• Entrez ID: 2673
• Gene name: Glutamine--fructose-6-phosphate transaminase 1
• Gene symbol: GFPT1
• Synonyms: CMS12, CMSTA1, GFA, GFAT, GFAT 1, GFAT1, GFAT1m, GFPT, GFPT1L, MSLG
• Chromosome: 2
• Chromosome location: 2p13.3
• Summary: This gene encodes the first and rate-limiting enzyme of the hexosamine pathway and controls the flux of glucose into the hexosamine pathway. The product of this gene catalyzes the formation of glucosamine 6-phosphate. [provided by RefSeq, Sep 2008]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs199678034	G>A,C,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	3 prime UTR variant
rs201322234	G>A	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs372725563	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs387906638	T>C	Pathogenic	Coding sequence variant, missense variant
rs775399768	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs922548333	C>A,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs1011196447	T>C	Pathogenic	Intron variant, splice acceptor variant
rs1553389102	C>T	Likely-pathogenic	Splice donor variant
rs1553390600	CT>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1558749457	G>A	Pathogenic	Stop gained, coding sequence variant
rs1558761046	G>T	Pathogenic	Coding sequence variant, missense variant
rs1558762013	C>T	Likely-pathogenic	Intron variant
rs1558773839	AACTT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1574051096	->ACGCG	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1574058076	C>A	Pathogenic	Coding sequence variant, missense variant
rs1574066341	C>T	Pathogenic	Coding sequence variant, stop gained, intron variant
rs1574066599	C>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001464	hsa-miR-16-5p	pSILAC, Proteomics;Other	18668040
MIRT016186	hsa-miR-590-3p	Sequencing	20371350
MIRT017993	hsa-miR-335-5p	Microarray	18185580
MIRT025445	hsa-miR-34a-5p	Proteomics	21566225
MIRT089320	hsa-miR-302c-5p	PAR-CLIP	21572407
MIRT120065	hsa-miR-888-3p	PAR-CLIP	21572407
MIRT207103	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT207108	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT389316	hsa-miR-1180-5p	PAR-CLIP	21572407
MIRT389316	hsa-miR-1180-5p	PAR-CLIP	20371350
MIRT389317	hsa-miR-7114-3p	PAR-CLIP	21572407
MIRT389317	hsa-miR-7114-3p	PAR-CLIP	20371350
MIRT440576	hsa-miR-485-5p	HITS-CLIP	24374217
MIRT540299	hsa-miR-3529-3p	PAR-CLIP	21572407
MIRT540300	hsa-miR-3065-5p	PAR-CLIP	21572407
MIRT540301	hsa-miR-4420	PAR-CLIP	21572407
MIRT540302	hsa-miR-181b-3p	PAR-CLIP	21572407
MIRT540303	hsa-miR-181b-2-3p	PAR-CLIP	21572407
MIRT540304	hsa-miR-302d-5p	PAR-CLIP	21572407
MIRT540305	hsa-miR-2277-3p	PAR-CLIP	21572407
MIRT540306	hsa-miR-302b-5p	PAR-CLIP	21572407
MIRT540307	hsa-miR-4526	PAR-CLIP	21572407
MIRT540308	hsa-miR-3660	PAR-CLIP	21572407
MIRT540309	hsa-miR-383-3p	PAR-CLIP	21572407
MIRT540310	hsa-miR-1304-3p	PAR-CLIP	21572407
MIRT540311	hsa-miR-3680-5p	PAR-CLIP	21572407
MIRT540312	hsa-miR-34b-3p	PAR-CLIP	21572407
MIRT548086	hsa-miR-2113	PAR-CLIP	21572407
MIRT548086	hsa-miR-2113	PAR-CLIP	20371350
MIRT548087	hsa-miR-4477b	PAR-CLIP	21572407
MIRT548087	hsa-miR-4477b	PAR-CLIP	20371350
MIRT548088	hsa-miR-218-5p	PAR-CLIP	21572407
MIRT548088	hsa-miR-218-5p	PAR-CLIP	20371350
MIRT548089	hsa-miR-3912-5p	PAR-CLIP	21572407
MIRT548089	hsa-miR-3912-5p	PAR-CLIP	20371350
MIRT548090	hsa-miR-6864-3p	PAR-CLIP	21572407
MIRT548090	hsa-miR-6864-3p	PAR-CLIP	20371350
MIRT548091	hsa-miR-3672	PAR-CLIP	21572407
MIRT548091	hsa-miR-3672	PAR-CLIP	20371350
MIRT548092	hsa-miR-4452	PAR-CLIP	21572407
MIRT548092	hsa-miR-4452	PAR-CLIP	20371350
MIRT548093	hsa-miR-183-3p	PAR-CLIP	21572407
MIRT548093	hsa-miR-183-3p	PAR-CLIP	20371350
MIRT548094	hsa-miR-769-5p	PAR-CLIP	21572407
MIRT548094	hsa-miR-769-5p	PAR-CLIP	20371350
MIRT548095	hsa-miR-4786-5p	PAR-CLIP	21572407
MIRT548095	hsa-miR-4786-5p	PAR-CLIP	20371350
MIRT548096	hsa-miR-4461	PAR-CLIP	21572407
MIRT548096	hsa-miR-4461	PAR-CLIP	20371350
MIRT548097	hsa-miR-3163	PAR-CLIP	21572407
MIRT548097	hsa-miR-3163	PAR-CLIP	20371350
MIRT548098	hsa-miR-646	PAR-CLIP	21572407
MIRT548098	hsa-miR-646	PAR-CLIP	20371350
MIRT548099	hsa-miR-541-5p	PAR-CLIP	21572407
MIRT548099	hsa-miR-541-5p	PAR-CLIP	20371350
MIRT548100	hsa-miR-561-3p	PAR-CLIP	21572407
MIRT548100	hsa-miR-561-3p	PAR-CLIP	20371350
MIRT548101	hsa-miR-548at-5p	PAR-CLIP	21572407
MIRT548101	hsa-miR-548at-5p	PAR-CLIP	20371350
MIRT548102	hsa-miR-4282	PAR-CLIP	21572407
MIRT548102	hsa-miR-4282	PAR-CLIP	20371350
MIRT548103	hsa-miR-330-3p	PAR-CLIP	21572407
MIRT548103	hsa-miR-330-3p	PAR-CLIP	20371350
MIRT548104	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT548104	hsa-miR-19b-3p	PAR-CLIP	20371350
MIRT548105	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT548105	hsa-miR-19a-3p	PAR-CLIP	20371350
MIRT570673	hsa-miR-4644	PAR-CLIP	20371350
MIRT570674	hsa-miR-4306	PAR-CLIP	20371350
MIRT570675	hsa-miR-185-5p	PAR-CLIP	20371350
MIRT570676	hsa-miR-4463	PAR-CLIP	20371350
MIRT570677	hsa-miR-7161-5p	PAR-CLIP	20371350
MIRT570678	hsa-miR-548u	PAR-CLIP	20371350
MIRT657879	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT657880	hsa-miR-1229-3p	HITS-CLIP	23824327
MIRT657881	hsa-miR-452-3p	HITS-CLIP	23824327
MIRT657882	hsa-miR-6862-3p	HITS-CLIP	23824327
MIRT657883	hsa-miR-6784-3p	HITS-CLIP	23824327
MIRT657884	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT657885	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT657886	hsa-miR-1281	HITS-CLIP	23824327
MIRT657887	hsa-miR-3620-3p	HITS-CLIP	23824327
MIRT657888	hsa-miR-6865-3p	HITS-CLIP	23824327
MIRT657889	hsa-miR-141-5p	HITS-CLIP	23824327
MIRT703306	hsa-miR-4762-3p	HITS-CLIP	23313552
MIRT703307	hsa-miR-4303	HITS-CLIP	23313552
MIRT703308	hsa-miR-5689	HITS-CLIP	23313552
MIRT703309	hsa-miR-27b-5p	HITS-CLIP	23313552
MIRT703310	hsa-miR-6751-3p	HITS-CLIP	23313552
MIRT703311	hsa-miR-1199-5p	HITS-CLIP	23313552
MIRT703312	hsa-miR-5586-3p	HITS-CLIP	23313552
MIRT703313	hsa-miR-6782-3p	HITS-CLIP	23313552
MIRT703314	hsa-miR-140-3p	HITS-CLIP	23313552
MIRT783149	hsa-miR-122-5p	HITS-CLIP	27418678
MIRT783496	hsa-miR-129-5p	HITS-CLIP	27418678
MIRT784613	hsa-miR-3135b	HITS-CLIP	27418678
MIRT784787	hsa-miR-3194-3p	HITS-CLIP	27418678
MIRT785007	hsa-miR-3652	HITS-CLIP	27418678
MIRT785574	hsa-miR-4280	HITS-CLIP	27418678
MIRT785726	hsa-miR-431-5p	HITS-CLIP	27418678
MIRT785835	hsa-miR-4430	HITS-CLIP	27418678
MIRT786621	hsa-miR-4755-3p	HITS-CLIP	27418678
MIRT786948	hsa-miR-5007-5p	HITS-CLIP	27418678
MIRT787015	hsa-miR-504-3p	HITS-CLIP	27418678
MIRT787759	hsa-miR-5691	HITS-CLIP	27418678
MIRT788838	hsa-miR-6805-3p	HITS-CLIP	27418678
MIRT789677	hsa-miR-8055	HITS-CLIP	27418678
MIRT789938	hsa-miR-924	HITS-CLIP	27418678

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004360	Function	Glutamine-fructose-6-phosphate transaminase (isomerizing) activity	IBA	21873635
GO:0005829	Component	Cytosol	TAS
GO:0006002	Process	Fructose 6-phosphate metabolic process	IBA	21873635
GO:0006047	Process	UDP-N-acetylglucosamine metabolic process	IBA	21873635
GO:0006048	Process	UDP-N-acetylglucosamine biosynthetic process	IEA
GO:0006048	Process	UDP-N-acetylglucosamine biosynthetic process	TAS
GO:0006112	Process	Energy reserve metabolic process	TAS	1460020
GO:0006487	Process	Protein N-linked glycosylation	IBA	21873635
GO:0006541	Process	Glutamine metabolic process	IEA
GO:0032922	Process	Circadian regulation of gene expression	ISS
GO:0036498	Process	IRE1-mediated unfolded protein response	TAS
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:0097367	Function	Carbohydrate derivative binding	IEA

Other IDs

• MIM: 138292
• HGNC: 4241
• e!Ensembl: ENSG00000198380

Protein

• UniProt ID: Q06210
• Protein name: Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1 (EC 2.6.1.16) (D-fructose-6-phosphate amidotransferase 1) (Glutamine:fructose-6-phosphate amidotransferase 1) (GFAT 1) (GFAT1) (Hexosephosphate aminotransferase 1)
• Protein function: Controls the flux of glucose into the hexosamine pathway. Most likely involved in regulating the availability of precursors for N- and O-linked glycosylation of proteins. Regulates the circadian expression of clock genes ARNTL/BMAL1 and CRY1.
• PDB: 2V4M, 2ZJ3, 2ZJ4, 6R4E, 6R4F, 6R4G, 6R4H, 6R4I, 6R4J, 6SVM, 6SVO, 6SVP, 6SVQ, 6ZMJ, 6ZMK
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13522	GATase_6	70 → 210		Domain
  PF01380	SIS	380 → 509	SIS domain	Domain
  PF01380	SIS	551 → 682	SIS domain	Domain

• Sequence:

  MCGIFAYLNYHVPRTRREILETLIKGLQRLEYRGYDSAGVGFDGGNDKDWEANACKIQLI
  KKKGKVKALDEEVHKQQDMDLDIEFDVHLGIAHTRWATHGEPSPVNSHPQRSDKNNEFIV
  IHNGIITNYKDLKKFLESKGYDFESETDTETIAKLVKYMYDNRESQDTSFTTLVERVIQQ
  LEGAFALVFKSVHFPGQAVGTRRGSPLLIGVRSEHKLSTDHIPILYRTARTQIGSKFTRW
  GSQGERGKDKKGSCNLSRVDSTTCLFPVEEKAVEYYFASDASAVIEHTNRVIFLEDDDVA
  AVVDGRLSIHRIKRTAGDHPGRAVQTLQMELQQIMKGNFSSFMQKEIFEQPESVVNTMRG
  RVNFDDYTVNLGGLKDHIKEIQRCRRLILIACGTSYHAGVATRQVLEELTELPVMVELAS
  DFLDRNTPVFRDDVCFFLSQSGETADTLMGLRYCKERGALTVGITNTVGSSISRETDCGV
  HINAGPEIGVASTKAYTSQFVSLVMFALMMCDDRISMQERRKEIMLGLKRLPDLIKEVLS
  MDDEIQKLATELYHQKSVLIMGRGYHYATCLEGALKIKEITYMHSEGILAGELKHGPLAL
  VDKLMPVIMIIMRDHTYAKCQNALQQVVARQGRPVVICDKEDTETIKNTKRTIKVPHSVD
  CLQGILSVIPLQLLAFHLAVLRGYDVDFPRNLAKSVTVE

• Sequence length: 699